Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HS3ST2_chr16_22809162_22921338	22818919	T T	TTCCCTCC others(13): Show TTCCCTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101	3	350	0.0086	20	c.485 others(37): Show c.485+3831_485+3832insTTCCTTCCTTCCCTCCCTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22818937	C C	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0012 a0001c0005t0002g0012	1	350	0.0029	20	c.485 others(37): Show c.485+3845_485+3846insCCCTCCCTCCCTTCCTTCCT	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22855696	G G	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	350	0.0029	20	c.485 others(39): Show c.485+40615_485+40634dupCTCTCTCTCTCTCTCTCTCT	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22906367	C C	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00609.hp1 others(60): Show HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00735.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01516.hp1 HG01891.hp1 HG01943.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02145.hp2 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18947.hp1 NA18953.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp2 NA18973.hp2 NA18980.hp1 NA18990.hp1 NA18994.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19056.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0005c0013	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0012 a0001c0003t0003 a0001c0004t0002 a0001c0005t0002 a0001c0011t0011 a0005c0013t0002	a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0170 others(60): Show a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0297 a0001c0001t0001g0303 a0001c0001t0001g0317 a0001c0001t0001g0324 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0004g0200 a0001c0002t0001g0007 a0001c0002t0001g0045 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0074 a0001c0002t0001g0078 a0001c0002t0001g0084 a0001c0002t0001g0087 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0111 a0001c0002t0001g0120 a0001c0002t0001g0124 a0001c0002t0001g0348 a0001c0002t0004g0095 a0001c0002t0005g0130 a0001c0002t0005g0131 a0001c0002t0012g0080 a0001c0003t0003g0021 a0001c0003t0003g0024 a0001c0004t0002g0171 a0001c0005t0002g0014 a0001c0011t0011g0003 a0005c0013t0002g0263	63	350	0.1800	20	c.486 others(37): Show c.486-8568_486-8549dupTAAATAAATAAATAAATAAA	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22913123	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03209.hp1 HG02809.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0002 a0001c0005t0002 a0001c0004t0002 a0001c0005t0002	a0001c0004t0002g0267 a0001c0005t0002g0041 a0001c0004t0002g0267 a0001c0005t0002g0041	2	350	0.0057	20	c.486 others(37): Show c.486-1812_486-1793dupAAGGAAGGAAGGAAGGAAGG	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22913148	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0171 a0001c0004t0002g0171	1	350	0.0029	20	c.486 others(37): Show c.486-1793_486-1792insAAGGAAGGAAGGGAGGGAGG	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22913148	A A	AAGGGAGG others(13): Show AAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA20300.hp2 HG02818.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0287 a0001c0001t0001g0169 a0001c0001t0001g0287	2	350	0.0057	20	c.486 others(37): Show c.486-1779_486-1760dupAGGGAGGGAGGGAGGGAGGG	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22918377	G G	GGGGTGTG others(13): Show GGGGTGTGTATGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG03139.hp1 others(1): Show HG01884.hp2 HG02280.hp1 HG03139.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 others(1): Show a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0002t0001g0061	4	350	0.0114	20	c.28 others(31): Show c.2815_*2816insGGGTGTGTATGTGTGTGTGT	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding		2040		chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22918377	G G	GGTGTGTG others(13): Show GGTGTGTGTATGTGTGGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	350	0.0029	20	c.28 others(31): Show c.2815_*2816insGTGTGTGTATGTGTGGGTGT	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding		2040		chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22918377	G G	GGTGTGTG others(13): Show GGTGTGTGTATGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02486.hp1 others(7): Show HG01884.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02818.hp2 HG03209.hp1 HG03225.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 a0001c0004t0014 a0001c0005t0002 a0001c0005t0006	a0001c0001t0001g0166 a0001c0001t0001g0271 a0001c0001t0001g0299 others(7): Show a0001c0001t0001g0166 a0001c0001t0001g0271 a0001c0001t0001g0299 a0001c0001t0001g0306 a0001c0002t0001g0013 a0001c0003t0003g0035 a0001c0004t0014g0242 a0001c0005t0002g0009 a0001c0005t0002g0041 a0001c0005t0006g0038	10	350	0.0286	20	c.28 others(31): Show c.2815_*2816insGTGTGTGTATGTGTGTGTGT	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding		2040		chr16	TogoVar
HS3ST3A1_chr17_13489032_13606929	13504315	T T	TCAAACAA others(13): Show TCAAACAAACAAACAAACAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0187 a0001c0001t0066g0187	1	338	0.0030	20	c.600 others(37): Show c.600-7498_600-7497insTTTGTTTGTTTGTTTGTTTG	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13556514	G G	GAAATAAA others(13): Show GAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp2 HG01261.hp2 others(22): Show HG01106.hp1 HG01123.hp2 HG01261.hp2 HG01928.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG03834.hp2 NA18522.hp1 NA18945.hp2 NA19060.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 a0001c0001t0018 a0001c0001t0031 a0001c0001t0073 a0001c0002t0001 a0001c0002t0005 a0001c0002t0013 a0001c0002t0053 a0001c0002t0058 a0001c0006t0040 a0001c0006t0063 a0001c0007t0009 a0002c0003t0007	a0001c0001t0002g0105 a0001c0001t0003g0107 a0001c0001t0003g0206 others(22): Show a0001c0001t0002g0105 a0001c0001t0003g0107 a0001c0001t0003g0206 a0001c0001t0006g0200 a0001c0001t0017g0302 a0001c0001t0018g0310 a0001c0001t0018g0313 a0001c0001t0018g0314 a0001c0001t0018g0327 a0001c0001t0031g0199 a0001c0001t0073g0322 a0001c0002t0001g0110 a0001c0002t0001g0132 a0001c0002t0005g0051 a0001c0002t0005g0052 a0001c0002t0013g0212 a0001c0002t0053g0087 a0001c0002t0058g0207 a0001c0006t0040g0007 a0001c0006t0063g0273 a0001c0007t0009g0312 a0001c0007t0009g0315 a0001c0007t0009g0325 a0002c0003t0007g0282 a0002c0003t0007g0293	25	338	0.0740	20	c.599 others(39): Show c.599+44016_599+44017insTATTTTATTTTATTTTATTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13560289	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG04199.hp2 NA18961.hp2 others(4): Show HG03490.hp2 HG04199.hp2 NA18961.hp2 NA18970.hp2 NA19090.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0081 a0001c0002t0001	a0001c0001t0002g0092 a0001c0001t0002g0237 a0001c0001t0006g0267 others(4): Show a0001c0001t0002g0092 a0001c0001t0002g0237 a0001c0001t0006g0267 a0001c0001t0011g0070 a0001c0001t0081g0338 a0001c0002t0001g0134 a0001c0002t0001g0204	7	338	0.0207	20	c.599 others(39): Show c.599+40222_599+40241dupTTTTTTTTTTTTTTTTTTTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13584550	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAAGAAG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19063.hp1 NA18968.hp2 NA19063.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0001 a0001c0002t0001 a0003c0005t0001	a0001c0002t0001g0109 a0003c0005t0001g0161 a0001c0002t0001g0109 a0003c0005t0001g0161	2	338	0.0059	20	c.599 others(39): Show c.599+15961_599+15980dupCTTCTTTCCTTCCTTCCTTC	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13585186	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03239.hp1 HG04204.hp2 others(7): Show HG02683.hp1 HG03239.hp1 HG04204.hp2 NA18989.hp1 NA18993.hp1 NA19005.hp2 NA19011.hp2 NA19068.hp1 NA19086.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0062 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0062 a0001c0002t0001 a0002c0004t0015	a0001c0001t0002g0264 a0001c0001t0003g0103 a0001c0001t0003g0238 others(7): Show a0001c0001t0002g0264 a0001c0001t0003g0103 a0001c0001t0003g0238 a0001c0001t0062g0090 a0001c0002t0001g0215 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0002c0004t0015g0286	10	338	0.0296	20	c.599 others(39): Show c.599+15325_599+15344dupAAAAAAAAAAAAAAAAAAAA	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3B1_chr17_14296081_14354404	14329315	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA19084.hp1 HG01358.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0066 a0001c0001t0002 a0001c0002t0066	a0001c0001t0002g0266 a0001c0002t0066g0362 a0001c0001t0002g0266 a0001c0002t0066g0362	2	432	0.0046	20	c.555 others(39): Show c.555-15679_555-15660dupGAAAGAAAGAAAGAAAGAAA	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
HS3ST3B1_chr17_14296081_14354404	14329367	A A	AAGAAAAG others(13): Show AAGAAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0095 a0001c0001t0084g0095	1	432	0.0023	20	c.555 others(39): Show c.555-15660_555-15659insGAAAAGGAAGGAAGGAAGGA	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
HS3ST3B1_chr17_14296081_14354404	14329367	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0070 a0001c0001t0036 a0001c0001t0070	a0001c0001t0036g0308 a0001c0001t0070g0307 a0001c0001t0036g0308 a0001c0001t0070g0307	2	432	0.0046	20	c.555 others(39): Show c.555-15660_555-15659insGAAAGAAAGAAAAGGAAGGA	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
HS3ST3B1_chr17_14296081_14354404	14329367	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAAAAGG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0058 a0001c0002t0030g0058	1	432	0.0023	20	c.555 others(39): Show c.555-15660_555-15659insGAAAGAAAGAAAGAAAAGGA	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25696846	C C	CCATTGTG others(13): Show CCATTGTGGCAATTGGTGCTA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG04184.hp1 HG03017.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0020 a0001c0001t0004 a0001c0001t0020	a0001c0001t0004g0098 a0001c0001t0020g0097 a0001c0001t0004g0098 a0001c0001t0020g0097	2	164	0.0122	20	c.734 others(37): Show c.734+3697_734+3716dupATTGTGGCAATTGGTGCTAC	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25828240	T T	TTTTCTGT others(13): Show TTTTCTGTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03490.hp2 HG02723.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0004g0144 a0001c0001t0001g0002 a0001c0001t0004g0144	2	164	0.0122	20	c.734 others(41): Show c.734+135090_734+135091insTTCTGTCTTTCTTTCTTTCT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25828242	C C	CTTTTTCT others(13): Show CTTTTTCTGTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03209.hp1 HG02976.hp1 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0003 a0001c0001t0003 a0003c0003t0003	a0001c0001t0003g0132 a0003c0003t0003g0064 a0001c0001t0003g0132 a0003c0003t0003g0064	2	164	0.0122	20	c.734 others(41): Show c.734+135092_734+135093insTTTTCTGTCTTTCTTTCTTT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25828301	C C	CCTCTCTC others(13): Show CCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0137 a0003c0003t0004g0137	1	164	0.0061	20	c.734 others(41): Show c.734+135169_734+135188dupCTCTCTCTCTCTCTCTCTCT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25857919	C C	CCTTCCTT others(13): Show CCTTCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	164	0.0061	20	c.734 others(41): Show c.734+164771_734+164772insCCTTCCTTTCTTTCTTTCTT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25857919	C C	CCTTCCTT others(13): Show CCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01993.hp2 HG02809.hp2 others(3): Show HG01258.hp2 HG01993.hp2 HG02809.hp2 HG02976.hp2 NA19083.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0035 a0001c0007t0006 a0002c0002t0002	a0001c0001t0001g0063 a0001c0001t0002g0056 a0001c0001t0003g0065 others(3): Show a0001c0001t0001g0063 a0001c0001t0002g0056 a0001c0001t0003g0065 a0001c0001t0035g0034 a0001c0007t0006g0049 a0002c0002t0002g0104	6	164	0.0366	20	c.734 others(41): Show c.734+164771_734+164772insCCTTTCTTTCTTTCTTTCTT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST4_chr16_25686959_26142685	25873416	A A	ATCCACCC others(13): Show ATCCACCCATCCATCCATTTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0138 a0001c0001t0025g0138	1	164	0.0061	20	c.734 others(41): Show c.734+180265_734+180266insTCCACCCATCCATCCATTTG	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1			chr16	TogoVar
HS3ST5_chr6_114050596_114348023	114341222	G G	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03471.hp1 others(1): Show HG02896.hp1 HG02897.hp1 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0019 a0001c0001t0005 a0001c0001t0014 a0001c0001t0019	a0001c0001t0005g0083 a0001c0001t0014g0034 a0001c0001t0014g0035 others(1): Show a0001c0001t0005g0083 a0001c0001t0014g0034 a0001c0001t0014g0035 a0001c0001t0019g0036	4	206	0.0194	20	c.-33 others(37): Show c.-339+953_-339+972dupTCTCTCTCTCTCTCTCTCTC	HS3ST5	ENSG00000249853.9	transcript	ENST00000312719.10	protein_coding	1/4			chr6	TogoVar
HS3ST5_chr6_114050596_114348023	114341222	G G	GGAGAGGG others(13): Show GGAGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0002 a0001c0001t0024g0002	1	206	0.0049	20	c.-33 others(37): Show c.-339+972_-339+973insTCTCTCTCTCTCTCCCTCTC	HS3ST5	ENSG00000249853.9	transcript	ENST00000312719.10	protein_coding	1/4			chr6	TogoVar
HS6ST2_chrX_132621015_132963629	132709812	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18943.hp1 NA18747.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0135 a0001c0001t0002g0118 a0001c0001t0001g0135 a0001c0001t0002g0118	2	201	0.0100	20	c.948 others(37): Show c.948-1338_948-1319dupGTGTGTGTGTGTGTGTGTGT	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	2/4			chrX	TogoVar
HS6ST2_chrX_132621015_132963629	132756820	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	201	0.0050	20	c.948 others(39): Show c.948-48346_948-48327dupACACACACACACACACACAC	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	2/4			chrX	TogoVar
HS6ST2_chrX_132621015_132963629	132829199	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01123.hp1 HG02055.hp1 others(10): Show HG00733.hp1 HG01123.hp1 HG02055.hp1 HG02698.hp1 HG02965.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG04115.hp1 HG04199.hp1 NA18957.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0008t0008	a0001c0001t0001g0066 a0001c0001t0002g0006 a0001c0001t0002g0024 others(10): Show a0001c0001t0001g0066 a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0052 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0071 a0001c0001t0002g0083 a0001c0001t0002g0197 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0008t0008g0087	13	201	0.0647	20	c.948 others(41): Show c.948-120706_948-120705insGTGTATATATATATATATAT	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	2/4			chrX	TogoVar
HS6ST2_chrX_132621015_132963629	132829199	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	201	0.0050	20	c.948 others(41): Show c.948-120706_948-120705insGTATATATATATATATATAT	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	2/4			chrX	TogoVar
HS6ST2_chrX_132621015_132963629	132894468	T T	TTGTTATG others(13): Show TTGTTATGTTATGTTATGTTA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18994.hp1 NA18988.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0108 a0001c0001t0002g0103 a0001c0001t0001g0108 a0001c0001t0002g0103	2	201	0.0100	20	c.947 others(39): Show c.947+62320_947+62339dupTAACATAACATAACATAACA	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	2/4			chrX	TogoVar
HS6ST3_chr13_96085107_96844562	96112578	A A	AATATACA others(13): Show AATATACATATATATATACAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	116	0.0086	20	c.707 others(39): Show c.707+21014_707+21015insCATATATATATACATATATA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96284910	G G	GCTTGCTT others(13): Show GCTTGCTTGCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	116	0.0086	20	c.707 others(41): Show c.707+193344_707+193345insGCTTGCTTTCTTTCTTTCTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96284910	G G	GCTTTCTT others(13): Show GCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0110 a0001c0001t0004g0110	1	116	0.0086	20	c.707 others(41): Show c.707+193389_707+193408dupTCTTTCTTTCTTTCTTTCTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96304679	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0008 a0001c0001t0025g0008	1	116	0.0086	20	c.707 others(41): Show c.707+213126_707+213145dupCTTTCTTTCTTTCTTTCTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96351335	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0082 a0001c0001t0001g0083	2	116	0.0172	20	c.707 others(41): Show c.707+259766_707+259767insTTTTTTTTTTTTTTTTAAAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1			chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96381410	G G	GTATCTAT others(13): Show GTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18747.hp1 NA18979.hp1 HG01106.hp2 NA18747.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0094 a0001c0001t0004g0093 a0001c0001t0006g0020 a0001c0001t0002g0094 a0001c0001t0004g0093 a0001c0001t0006g0020	3	116	0.0259	20	c.707 others(41): Show c.707+289850_707+289869dupTATCTATCTATCTATCTATC	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96381410	G G	GTATCTAT others(13): Show GTATCTATGTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03130.hp2 HG02895.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0115 a0001c0001t0006g0116 a0001c0001t0002g0115 a0001c0001t0006g0116	2	116	0.0172	20	c.707 others(41): Show c.707+289848_707+289849insGTATCTATCTATCTATCTAT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96459100	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02080.hp1 HG00099.hp2 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0070 a0001c0001t0002g0006 a0001c0001t0001g0070 a0001c0001t0002g0006	2	116	0.0172	20	c.707 others(41): Show c.707+367537_707+367556dupAAAAAAAAAAAAAAAAAAAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96464138	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03688.hp2 HG01358.hp1 HG03688.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0005 a0001c0001t0003 a0002c0002t0005	a0001c0001t0003g0052 a0002c0002t0005g0061 a0001c0001t0003g0052 a0002c0002t0005g0061	2	116	0.0172	20	c.708 others(41): Show c.708-368348_708-368329dupAAAAAAAAAAAAAAAAAAAA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96658268	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0014 a0001c0001t0019g0014	1	116	0.0086	20	c.708 others(41): Show c.708-174211_708-174192dupTTTTTTTTTTTTTTTTTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96706413	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18999.hp2 HG03041.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0026 a0001c0001t0016g0086 a0001c0001t0004g0026 a0001c0001t0016g0086	2	116	0.0172	20	c.708 others(41): Show c.708-126068_708-126049dupTATATATATATATATATATA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSBP1_chr16_83802978_83824737	83820798	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG06807.hp2 HG02071.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0037 a0001c0001t0006 a0001c0001t0037	a0001c0001t0006g0003 a0001c0001t0037g0003 a0001c0001t0006g0003 a0001c0001t0037g0003	2	468	0.0043	20	c.93 others(31): Show c.9380_*9381insTCTCTCTCTCTCTCTCTCTG	HSBP1	ENSG00000230989.8	transcript	ENST00000433866.7	protein_coding		1062		chr16	TogoVar
HSCB_chr22_28737039_28762510	28750945	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02559.hp2 HG02572.hp2 others(6): Show HG01358.hp1 HG02559.hp2 HG02572.hp2 HG02723.hp1 HG02896.hp1 HG06807.hp1 NA18999.hp1 NA19055.hp1 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 others(6): Show a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0208 a0001c0001t0001g0228 a0001c0001t0001g0229 a0003c0003t0001g0055	9	410	0.0220	20	c.569 others(35): Show c.569-291_569-272dupTTTTTTTTTTTTTTTTTTTT	HSCB	ENSG00000100209.11	transcript	ENST00000216027.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
HSD11B1_chr1_209699846_209739929	209709937	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	400	0.0025	20	c.517 others(37): Show c.517+2827_517+2846dupCACACACACACACACACACA	HSD11B1	ENSG00000117594.10	transcript	ENST00000367027.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
HSD17B12_chr11_43675738_43861615	43690402	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	280	0.0036	20	c.160 others(37): Show c.160+9416_160+9417insTTTTTTTTTTTTTTTTTTTT	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43810367	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp2 HG02647.hp1 others(3): Show HG02622.hp1 HG02630.hp2 HG02647.hp1 HG03486.hp1 NA19030.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0003 a0002c0002t0002g0024 a0002c0002t0002g0156 others(3): Show a0002c0002t0002g0003 a0002c0002t0002g0024 a0002c0002t0002g0156 a0002c0002t0002g0162 a0002c0002t0002g0176 a0002c0002t0005g0208	6	280	0.0214	20	c.392 others(37): Show c.392-5053_392-5034dupTATATATATATATATATATA	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B14_chr19_48808018_48841491	48811494	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 NA18959.hp1 HG03486.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0218 a0001c0001t0001g0042 a0001c0001t0001g0218	2	394	0.0051	20	c.16 others(31): Show c.1680_*1681insTTTTTTTTTTTTTTTTTTTT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding		1523		chr19	TogoVar

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